Xp21 deletion syndrome

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Xp21 deletion syndrome

Synonyms: Complex GKD | Complex glycerol kinase deficiency | Del(X)(p21) | Xp21 contiguous gene deletion syndrome | Xp21 microdeletion syndrome

A rare chromosomal anomaly characterized by complex glycerol kinase deficiency congenital adrenal hypoplasia intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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Xp21 deletion syndrome?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.